Arthur L. Horwich

Arthur L. Horwich is the Sterling Professor of Genetics and Professor of Pediatrics at Yale University's School of Medicine and an Investigator at the Howard Hughes Medical Institute. He received undergraduate and M.D. degrees from Brown University, trained in Pediatrics at Yale, was then a postdoctoral fellow first at Salk Institute in the Tumor Virology Laboratory, and then in Genetics at Yale, then joined the Yale faculty.

His work was initially involved with protein import into mitochondria and resulted in discovery of a "folding machine" inside mitochondria, Hsp60. He has used genetic, biochemical, and biophysical tools to study the mechanism of action of these ring shaped so-called chaperonin machines that provide essential assistance to protein folding in many cellular compartments.

More recently he has focused on neurodegenerative disease as caused by protein misfolding, seeking to understand how misfolded SOD1 enzyme in the cytosol of motor neurons leads to one form of ALS. His lab is modeling mutant SOD1-linked ALS in mice transgenic for a mutant SOD1-YFP, the YFP moiety offering a fluorescent reporter of the mutant protein and “tag” for biochemical studies. The transgenic mutant strain presents YFP fluorescent aggregates in motor neurons by the time of weaning, develops muscle weakness, and paralyzes by 6 months of age.